The resources provided by the National Institute of Standards and Technology (NIST) Genome in a Bottle (GIAB) consortium promise to greatly improve the reliability of genetic assays. With these tools, laboratories can integrate performance measures directly within the workflow of their testing operations.

Nephropathology Associates, Inc. (Nephropath™), a leading U.S. laboratory in the interpretation of kidney biopsies, was motivated to use the NIST materials by the need to demonstrate proficiency in their NGS platform for purposes of CAP/CLIA certification.

As part of a collaborative project between Nephropath and DNASTAR, a new workflow has been added to DNASTAR’s assembly and variant calling software that supports use of the GIAB call sets. The purpose is to validate the efficacy of a procedure from sample prep through sequence analysis. At the end of the workflow, the lab obtains an automatically generated statistical report detailing the assembly sensitivity, specificity, and accuracy.

Additional new workflows have been added to Lasergene in support of streamlined Gene Panel assembly and analysis utilizing NGS data.

In this workshop, Steve Lincoln from the Genome in a Bottle Consortium will be presenting on the importance of high-confidence standard validation control datasets. Nephropath's Marjorie Beggs will then present the use of the NA12878 genome for a validation workflow in a CLIA lab. Finally, DNASTAR's Matthew Keyser will give a live demonstration of DNASTAR's Lasergene software for gene panel workflows.

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